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  3. LRBA deficiency
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LRBA deficiency


Información en español Title




Other Names:
Combined immunodeficiency due to LRBA deficiency; CID due to LRBA deficiency; Common variable immunodeficiency-8 (CVID8) with autoimmunity; Combined immunodeficiency due to LRBA deficiency; CID due to LRBA deficiency; Common variable immunodeficiency-8 (CVID8) with autoimmunity; LATAIE disease; LRBA deficiency with Autoantibodies, regulatory T cell defects, Autoimmune Infiltration, and Enteropathy See More
Categories:
Congenital and Genetic Diseases; Digestive Diseases; Endocrine Diseases; Congenital and Genetic Diseases; Digestive Diseases; Endocrine Diseases; Immune System Diseases See More

Summary Summary


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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 445018

Definition
A rare, genetic, primary immunodeficiency characterized by early onset of recurrent respiratory infections and variable combination of autoimmune disorders, including hemolytic anemia, thrombocytopenic purpura, lymphoproliferative disease, inflammatory bowel disease, colitis, diabetes, arthritis, and dermatitis. Failure to thrive, hepatosplenomegaly and endocrine abnormalities have also been associated. Variable immunologic findings include deficiency of CD4+ T regulatory cells, decreased B-cells, and hypogammaglobulinemia.

Visit the Orphanet disease page for more resources.
Last updated: 3/1/2019

Symptoms Symptoms


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This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 39 |
Medical Terms Other Names
Learn More:
HPO ID
1%-4% of people have these symptoms
Arthritis
Joint inflammation
0001369
Asthma 0002099
Autoimmune hemolytic anemia 0001890
Autoimmune thrombocytopenia 0001973
B lymphocytopenia
Low B cell count
0010976
Bronchiectasis
Permanent enlargement of the airways of the lungs
0002110
Chronic atrophic gastritis 0002582
Chronic diarrhea 0002028
Chronic lung disease 0006528
Chronic neutropenia 0410252
Clubbing of fingers
Clubbed fingers
Clubbing (hands)
Finger clubbing
[ more ]
0100759
Colitis 0002583
Conjunctivitis
Pink eye
0000509
Decreased circulating IgA level 0002720
Decreased circulating IgG level 0004315
Decreased circulating total IgM 0002850
Decreased proportion of class-switched memory B cells 0030388
Decreased specific antibody response to vaccination 0032140
Erythema nodosum 0012219
Failure to thrive
Faltering weight
Weight faltering
[ more ]
0001508
Generalized lymphadenopathy
Generalized swelling of lymph nodes
Swollen lymph nodes affecting all regions of the body
[ more ]
0008940
Growth delay
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ]
0001510
Hypothyroidism
Underactive thyroid
0000821
Lymphoma
Cancer of lymphatic system
0002665
Lymphoproliferative disorder 0005523
Pancytopenia
Low blood cell count
0001876
Psoriasiform lesion 0025526
Recurrent otitis media
Recurrent middle ear infection
0000403
Recurrent pneumonia 0006532
Recurrent sinusitis 0011108
Sepsis
Infection in blood stream
0100806
Splenomegaly
Increased spleen size
0001744
Thyroiditis
Thyroid gland inflammation
0100646
Type I diabetes mellitus
Type 1 diabetes
Type I diabetes
[ more ]
0100651
Uveitis 0000554
Villous atrophy 0011473
Vitiligo
Blotchy loss of skin color
0001045
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Immunodeficiency
Decreased immune function
0002721
Showing of 39 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Learn More Learn More


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These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.
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You can help advance rare disease research!
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